Genetic signatures of gene flow and malariadriven natural selection in Sub-Saharan populations of the “endemic burkitt lymphoma belt”

Mateus H. Gouveia, Andrew W. Bergen, Victor Borda, Kelly Nunes, Thiago P. Leal, Martin D. Ogwang, Edward D. Yeboah, James E. Mensah, Tobias Kinyera, Isaac Otim, Hadijah Nabalende, Ismail D. Legason, Sununguko Wata Mpoloka, Gaonyadiwe George Mokone, Patrick Kerchan, Kishor Bhatia, Steven J. Reynolds, Richard B. Birtwum, Andrew A. Adjei, Yao TetteyEvelyn Tay, Robert Hoover, Ruth M. Pfeiffer, Robert J. Biggar, James J. Goedert, Ludmila Prokunina-Olsson, Michael Dean, Meredith Yeager, M. Fernanda Lima-Costa, Ann W. Hsing, Sarah A. Tishkoff, Stephen J. Chanock, Eduardo Tarazona-Santos, Sam M. Mbulaiteye

Research output: Contribution to journalArticlepeer-review


Populations in sub-Saharan Africa have historically been exposed to intense selection from chronic infection with falciparum malaria. Interestingly, populations with the highest malaria intensity can be identified by the increased occurrence of endemic Burkitt Lymphoma (eBL), a pediatric cancer that affects populations with intense malaria exposure, in the so called “eBL belt” in sub-Saharan Africa. However, the effects of intense malaria exposure and subSaharan populations’ genetic histories remain poorly explored. To determine if historical migrations and intense malaria exposure have shaped the genetic composition of the eBL belt populations, we genotyped ~4.3 million SNPs in 1,708 individuals from Ghana and Northern Uganda, located on opposite sides of eBL belt and with ≥ 7 months/year of intense malaria exposure and published evidence of high incidence of BL. Among 35 Ghanaian tribes, we showed a predominantly West-Central African ancestry and genomic footprints of gene flow from Gambian and East African populations. In Uganda, the North West population showed a predominantly Nilotic ancestry, and the North Central population was a mixture of Nilotic and Southern Bantu ancestry, while the Southwest Ugandan population showed a predominant Southern Bantu ancestry. Our results support the hypothesis of diverse ancestral origins of the Ugandan, Kenyan and Tanzanian Great Lakes African populations, reflecting a confluence of Nilotic, Cushitic and Bantu migrations in the last 3000 years. Natural selection analyses suggest, for the first time, a strong positive selection signal in the ATP2B4 gene (rs10900588) in Northern Ugandan populations. These findings provide important baseline genomic data to facilitate disease association studies, including of eBL, in eBL belt populations.

Original languageEnglish (US)
Article numbere1008027
JournalPLoS genetics
Issue number3
StatePublished - Mar 2019
Externally publishedYes

ASJC Scopus subject areas

  • Ecology, Evolution, Behavior and Systematics
  • Molecular Biology
  • Genetics
  • Genetics(clinical)
  • Cancer Research

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